Variant report

Variant	rs4924523
Chromosome Location	chr15:41255370-41255371
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:41232446..41235218-chr15:41255104..41257063,2	K562	blood:
2	chr15:41232489..41235569-chr15:41253295..41255593,3	MCF-7	breast:

Extended variants
information (count: 42 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs1001341	0.86[EUR][1000 genomes]
rs11070314	0.90[AFR][1000 genomes];0.99[EUR][1000 genomes]
rs11070315	0.96[EUR][1000 genomes]
rs11070317	0.95[EUR][1000 genomes]
rs11854054	0.81[AFR][1000 genomes]
rs11855248	0.82[EUR][1000 genomes]
rs12593739	0.96[EUR][1000 genomes]
rs12899590	0.83[EUR][1000 genomes]
rs1869907	0.90[EUR][1000 genomes]
rs2412572	0.84[EUR][1000 genomes]
rs2412574	0.89[EUR][1000 genomes]
rs28479904	0.83[EUR][1000 genomes]
rs28501589	0.81[EUR][1000 genomes]
rs28538500	0.89[AFR][1000 genomes];0.99[EUR][1000 genomes]
rs28572344	0.80[EUR][1000 genomes]
rs2899002	0.91[EUR][1000 genomes]
rs3900905	0.86[EUR][1000 genomes]
rs3986311	0.86[EUR][1000 genomes]
rs4244584	0.85[EUR][1000 genomes]
rs4497658	0.87[EUR][1000 genomes]
rs4923890	0.87[EUR][1000 genomes]
rs4924519	0.88[EUR][1000 genomes]
rs4924520	0.86[AFR][1000 genomes];0.99[EUR][1000 genomes]
rs4924521	0.95[AFR][1000 genomes];0.99[EUR][1000 genomes]
rs4924522	0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4924524	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4924525	0.93[EUR][1000 genomes]
rs4924526	0.95[AFR][1000 genomes];0.99[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4924528	0.93[EUR][1000 genomes]
rs60588038	0.99[EUR][1000 genomes]
rs7169669	0.83[EUR][1000 genomes]
rs7174555	0.86[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs72735675	0.84[AFR][1000 genomes];0.99[EUR][1000 genomes]
rs8030306	0.88[EUR][1000 genomes]
rs8042127	0.89[EUR][1000 genomes]
rs9796	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv904101	chr15:40979651-41275014	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
2	esv1819092	chr15:41017682-41255750	Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
3	nsv904103	chr15:41123172-41275014	Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
4	nsv904105	chr15:41149824-41275014	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
5	nsv904106	chr15:41221067-41259523	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
6	esv1794127	chr15:41245289-41276158	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4924523	NDUFAF1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:41246400-41268200	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr15:41246600-41258200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr15:41246600-41270000	Weak transcription	HUVEC	blood vessel
4	chr15:41246800-41268000	Weak transcription	Primary T helper cells PMA-I stimulated	--
5	chr15:41246800-41268200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr15:41249000-41258400	Weak transcription	K562	blood
7	chr15:41249400-41266000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr15:41249400-41268000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr15:41249600-41258600	Weak transcription	NHLF	lung
10	chr15:41250000-41258400	Weak transcription	Right Atrium	heart
11	chr15:41250000-41264400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr15:41250200-41255400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr15:41250600-41258200	Weak transcription	Left Ventricle	heart
14	chr15:41250600-41258600	Weak transcription	Aorta	Aorta
15	chr15:41250800-41258000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr15:41250800-41258200	Weak transcription	HSMMtube	muscle
17	chr15:41252400-41269400	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr15:41252600-41258400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr15:41252800-41258200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr15:41252800-41258400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr15:41252800-41261000	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr15:41252800-41270800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr15:41253000-41258200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr15:41253400-41255400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr15:41253400-41257400	Weak transcription	Fetal Intestine Small	intestine
26	chr15:41253400-41258400	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr15:41253600-41258400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr15:41253600-41268200	Weak transcription	Spleen	Spleen
29	chr15:41253600-41268800	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr15:41253600-41268800	Weak transcription	Right Ventricle	heart
31	chr15:41253800-41257600	Weak transcription	Stomach Mucosa	stomach

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